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Direct contact in inviting high-risk members of hereditary colon cancer families to genetic counselling and DNA-testing
  1. Katja Aktan-Collan (katja.aktan-collan{at}helsinki.fi)
  1. University of Helsinki, Finland
    1. Ari Haukkala (ari.haukkala{at}helsinki.fi)
    1. University of Helsinki, Finland
      1. Kirsi Pylvänäinen (kirsi.pylvanainen{at}ksshp.fi)
      1. Jyväskylä Central Hospital, Finland
        1. Heikki J Järvinen (heikki.jarvinen{at}hus.fi)
        1. Helsinki University Hospital, Finland
          1. Lauri A Aaltonen (lauri.aaltonen{at}helsinki.fi)
          1. University of Helsinki, Finland
            1. Päivi T Peltomäki (paivi.peltomaki{at}helsinki.fi)
            1. University of Helsinki, Finland
              1. Elina Rantanen (elina.rantanen{at}utu.fi)
              1. University of Turku, Finland
                1. Helena Kääriäinen (helena.kaariainen{at}ktl.fi)
                1. National Public Health Institute, Finland
                  1. Jukka-Pekka Mecklin (jukka-pekka.mecklin{at}ksshp.fi)
                  1. Jyvaskylä Central Hospital, Finland

                    Abstract

                    Background: Identification of hereditary predisposition to cancer has limited significance if not followed by efficient cancer prevention in the family. The proband traditionally informs his/her relatives about increased risk, but distant relatives may remain uninformed. We took a novel approach to contact directly at-risk persons assumed to be unaware of their increased cancer risk. With cancer prevention as our ultimate goal, we aimed to investigate attitudes and psychosocial consequences of this novel strategy.

                    Methods: In Lynch syndrome families, 286 healthy adult relatives at 50% risk of a predisposing mutation were contacted by a letter. Of them, 112 participated in counselling and predictive testing. Baseline and 1-month post-test information of 73 respondents were compared with 299 corresponding subjects, approached via the proband (family-mediated approach in our previous study) in these families.

                    Results: After the contact letter, 51% consented to the study. Of them, 92% approved of the direct contact and 33% had tried to seek information. In 34% of the mutation carriers, neoplasia was identified in the first post-test colonoscopy. Although post-test fear of cancer increased among the mutation carriers and decreased among noncarriers, practically all participants were satisfied with their decision to participate independently of their test results, parallel to the family-mediated approach.

                    Conclusion: In this large-scale study, relatives in cancer families were actively recruited to reach them for genetic counselling. Their attitudes were encouraging, and psychosocial consequences were similar to the family-mediated approach. Our results suggest the appropriateness of direct contact as an alternative method concerning a life-threatening treatable disease.

                    • HNPCC (hereditary non-polyposis colorectal cancer)
                    • Lynch Syndrome
                    • direct contact approach

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